Suchergebnisse - "Barbetti, Fabrizio"

PubPharm (148)

1

Permanent Neonatal diabetes-causing Insulin mutations have dominant negative effects on beta cell identity

enthalten in: bioRxiv.org | 2024

von Zhang, Y. | Sui, L. | Du, Q. | +9

2

A new variant in the GATA6 gene associated with tracheoesophageal fistula, pulmonary vein stenosis and neonatal diabetes

enthalten in: Hormone research in paediatrics | 2024

von Pugnaloni, F. | Martini, L. | De Rose, D. | +11

3

The changing landscape of neonatal diabetes mellitus in Italy between 2003-2022

enthalten in: The Journal of clinical endocrinology and metabolism | 2024

von Rapini, N. | Delvecchio, M. | Mucciolo, M. | +57

4

Permanent neonatal diabetes-causing insulin mutations have dominant negative effects on beta cell identity

enthalten in: Molecular metabolism | 2024

von Zhang, Y. | Sui, L. | Du, Q. | +9

UpdateOf: bioRxiv. 2023 Sep 15;:. - PMID 37745320

5

A rare cause of transient neonatal diabetes mellitus : Spontaneous HNF1B splice variant

enthalten in: Diabetic medicine : a journal of the British Diabetic Association | 2024

von Pezzino, G. | Ruta, R. | Rapini, N. | +5

6

A rare cause of transient neonatal diabetes mellitus : Spontaneous HNF1B splice variant

enthalten in: Diabetic Medicine | 2024

von Pezzino, G. | Ruta, R. | Rapini, N. | +5

7

Permanent Neonatal diabetes-causing Insulin mutations have dominant negative effects on beta cell identity

enthalten in: bioRxiv : the preprint server for biology | 2023

von Zhang, Y. | Sui, L. | Du, Q. | +9

UpdateIn: Mol Metab. 2024 Jan 16;80:101879. - PMID 38237895

8

The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance

enthalten in: Acta diabetologica | 2023

von Silvestri, F. | Tromba, V. | Schiaffini, R. | +3

9

Monogenic diabetes clinic (MDC) : 3-year experience

enthalten in: Acta diabetologica | 2023

von Rapini, N. | Patera, P. | Schiaffini, R. | +11

ErratumIn: Acta Diabetol. 2022 Nov 5;:. - PMID 36334152

10

Case report : Better late than never, but sooner is better: switch from CSII to sulfonylureas in two patients with neonatal diabetes due to KCNJ11 variants

enthalten in: Frontiers in endocrinology | 2023

von Mancioppi, V. | Pozzi, E. | Zanetta, S. | +6

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